TG c.523G>C ;(p.V175L)

Variant ID: 8-133885351-G-C

NM_003235.4(TG):c.523G>C;(p.V175L)

This variant was identified in 9 publications

View GRCh38 version.




Publications:


HaploCoV: unsupervised classification and rapid detection of novel emerging variants of SARS-CoV-2.

Communications Biology
Chiara, Matteo M; Horner, David S DS; Ferrandi, Erika E; Gissi, Carmela C; Pesole, Graziano G
Publication Date: 2023-04-22

Variant appearance in text: TG: 523G>C; V175L
PubMed Link: 37087497
Variant Present in the following documents:
  • 42003_2023_4784_MOESM4_ESM.xlsx, sheet 1
View BVdb publication page



Rickettsia felis DNA recovered from a child who lived in southern Africa 2000 years ago.

Communications Biology
Rifkin, Riaan F RF; Vikram, Surendra S; Alcorta, Jaime J; Ramond, Jean-Baptiste JB; Cowan, Don A DA; Jakobsson, Mattias M; Schlebusch, Carina M CM; Lombard, Marlize M
Publication Date: 2023-03-03

Variant appearance in text: TG: 523G>C; Val175Leu
PubMed Link: 36869137
Variant Present in the following documents:
  • 42003_2023_4582_MOESM4_ESM.xlsx, sheet 9
View BVdb publication page



The Notch1/CD22 signaling axis disrupts Treg cell function in SARS-CoV2-associated multisystem inflammatory syndrome in children.

The Journal Of Clinical Investigation
Benamar, Mehdi M; Chen, Qian Q; Chou, Janet J; Julé, Amélie M AM; Boudra, Rafik R; Contini, Paola P; Crestani, Elena E; Lai, Peggy S PS; Wang, Muyun M; Fong, Jason J; Rockwitz, Shira S; Lee, Pui Y PY; Chan, Tsz Man Fion TMF; Altun, Ekin Zeynep EZ; Kepenekli, Eda E; Karakoc-Aydiner, Elif E; Ozen, Ahmet A; Boran, Perran P; Aygun, Fatih F; Önal, Pınar P; Kilinc Sakalli, Ayse Ayzit AA; Cokugras, Haluk H; Gelmez, Metin Yusuf MY; Oktelik, Fatma B FB; Cetin Aktas, Esin E; Zhong, Yuelin Y; Taylor, Maria L ML; Irby, Katherine K; Halasa, Natasha B NB; Mack, Elizabeth H EH; Signa, Sara S; Prigione, Ignazia I; Gattorno, Marco M; Cotugno, Nicola N; Amodio, Donato D; Geha, Raif S RS; Son, Mary Beth MB; Newburger, Jane W JW; Agrawal, Pankaj B PB; Volpi, Stefano S; Palma, Paolo P; Kiykim, Ayca A; Randolph, Adrienne A; Deniz, Gunnur G; Baris, Safa S; De Palma, Raffaele R; Schmitz-Abe, Klaus K; Charbonnier, Louis-Marie LM; Henderson, Lauren A LA; Chatila, Talal A TA
Publication Date: 2022-10-25

Variant appearance in text: TG: V175L
PubMed Link: 36282598
Variant Present in the following documents:
  • jci-133-163235-s083.xlsx, sheet 1
View BVdb publication page



A homozygous variant in the GPIHBP1 gene in a child with severe hypertriglyceridemia and a systematic literature review.

Frontiers In Genetics
Sustar, Ursa U; Groselj, Urh U; Khan, Sabeen Abid SA; Shafi, Saeed S; Khan, Iqbal I; Kovac, Jernej J; Bizjan, Barbara Jenko BJ; Battelino, Tadej T; Sadiq, Fouzia F
Publication Date: 2022

Variant appearance in text: TG: 523G>C
PubMed Link: 36051701
Variant Present in the following documents:
  • Main text
View BVdb publication page



Nitro-fatty acids are formed in response to virus infection and are potent inhibitors of STING palmitoylation and signaling.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Hansen, Anne Louise AL; Buchan, Gregory J GJ; Rühl, Michael M; Mukai, Kojiro K; Salvatore, Sonia R SR; Ogawa, Emari E; Andersen, Sidsel D SD; Iversen, Marie B MB; Thielke, Anne L AL; Gunderstofte, Camilla C; Motwani, Mona M; Møller, Charlotte T CT; Jakobsen, Andreas S AS; Fitzgerald, Katherine A KA; Roos, Jessica J; Lin, Rongtuan R; Maier, Thorsten J TJ; Goldbach-Mansky, Raphaela R; Miner, Cathrine A CA; Qian, Wei W; Miner, Jonathan J JJ; Rigby, Rachel E RE; Rehwinkel, Jan J; Jakobsen, Martin R MR; Arai, Hiroyuki H; Taguchi, Tomohiko T; Schopfer, Francisco J FJ; Olagnier, David D; Holm, Christian K CK
Publication Date: 2018-08-14

Variant appearance in text: TGN: V175L
PubMed Link: 30061387
Variant Present in the following documents:
  • Main text
  • pnas.201806239.pdf
View BVdb publication page



The single berberine bridge enzyme homolog of Physcomitrella patens is a cellobiose oxidase.

The Febs Journal
Toplak, Marina M; Wiedemann, Gertrud G; Ulićević, Jelena J; Daniel, Bastian B; Hoernstein, Sebastian N W SNW; Kothe, Jennifer J; Niederhauser, Johannes J; Reski, Ralf R; Winkler, Andreas A; Macheroux, Peter P
Publication Date: 2018-05

Variant appearance in text: TG: V175L
PubMed Link: 29633551
Variant Present in the following documents:
  • FEBS-285-1923.pdf
View BVdb publication page



Loss of Dnmt3a Immortalizes Hematopoietic Stem Cells In Vivo.

Cell Reports
Jeong, Mira M; Park, Hyun Jung HJ; Celik, Hamza H; Ostrander, Elizabeth L EL; Reyes, Jaime M JM; Guzman, Anna A; Rodriguez, Benjamin B; Lei, Yong Y; Lee, Yeojin Y; Ding, Lei L; Guryanova, Olga A OA; Li, Wei W; Goodell, Margaret A MA; Challen, Grant A GA
Publication Date: 2018-04-03

Variant appearance in text: TG: 523G>C
PubMed Link: 29617651
Variant Present in the following documents:
  • NIHMS958971-supplement-5.xlsx, sheet 3
  • NIHMS958971-supplement-5.xlsx, sheet 2
View BVdb publication page



Whole-Genome Resequencing Identifies the Molecular Genetic Cause for the Absence of a Gy5 Glycinin Protein in Soybean PI 603408.

G3 (Bethesda, Md.)
Gillman, Jason D JD; Kim, Won-Seok WS; Song, Bo B; Oehrle, Nathan W NW; Tawari, Nilesh R NR; Liu, Shanshan S; Krishnan, Hari B HB
Publication Date: 2017-07-05

Variant appearance in text: TG: Val175Leu
PubMed Link: 28592556
Variant Present in the following documents:
  • 2345FileS1.xlsx, sheet 1
View BVdb publication page



Distinct genotypic profiles of the two major clades of Mycobacterium africanum.

Bmc Infectious Diseases
Vasconcellos, Sidra E Gonçalves SE; Huard, Richard C RC; Niemann, Stefan S; Kremer, Kristin K; Santos, Adalberto R AR; Suffys, Philip N PN; Ho, John L JL
Publication Date: 2010-03-29

Variant appearance in text: TG: V175L
PubMed Link: 20350321
Variant Present in the following documents:
  • 1471-2334-10-80.pdf
View BVdb publication page